MPS3D
MCID: MCP046
MIFTS: 34

Mucopolysaccharidosis, Type Iiid (MPS3D)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Mucopolysaccharidosis, Type Iiid

MalaCards integrated aliases for Mucopolysaccharidosis, Type Iiid:

Name: Mucopolysaccharidosis, Type Iiid 57 40
Mucopolysaccharidosis Type Iiid 57 53 59 74 13
Mps Iiid 57 53 74 55
Mps3d 57 53 59 74
Glucosamine N-Acetyl-6-Sulfatase Deficiency 53 59
N-Acetylglucosamine-6-Sulfatase Deficiency 57 74
Mucopolysaccharidosis Type 3d 53 59
Sanfilippo Syndrome Type D 53 59
Sanfilippo Syndrome D 57 53
Gns Deficiency 53 59
Mpsiiid 53 59
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency 53
Mucopoly-Saccharidosis Type 3d 53
Mucopolysaccharidosis 3d 74
Sanfilippo D Syndrome 74
Mps Iii-D 75
Mps Iii D 72
Mps 3d 53

Characteristics:

Orphanet epidemiological data:

59
sanfilippo syndrome type d
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
four clinically indistinguishable biochemically distinct forms (see )


HPO:

32
mucopolysaccharidosis, type iiid:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 57 252940
MeSH 44 D009084
ICD10 via Orphanet 34 E76.2
UMLS via Orphanet 73 C0086650
Orphanet 59 ORPHA79272
MedGen 42 C0086650
UMLS 72 C0086650

Summaries for Mucopolysaccharidosis, Type Iiid

NIH Rare Diseases : 53 Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.

MalaCards based summary : Mucopolysaccharidosis, Type Iiid, also known as mucopolysaccharidosis type iiid, is related to mucopolysaccharidosis iii and mucopolysaccharidosis-plus syndrome, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis, Type Iiid is GNS (Glucosamine (N-Acetyl)-6-Sulfatase). Affiliated tissues include brain, spinal cord and bone, and related phenotypes are low-set ears and short neck

OMIM : 57 The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003). (252940)

UniProtKB/Swiss-Prot : 74 Mucopolysaccharidosis 3D: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.

Wikipedia : 75 Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal... more...

Related Diseases for Mucopolysaccharidosis, Type Iiid

Graphical network of the top 20 diseases related to Mucopolysaccharidosis, Type Iiid:



Diseases related to Mucopolysaccharidosis, Type Iiid

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Iiid

Human phenotypes related to Mucopolysaccharidosis, Type Iiid:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 short neck 32 HP:0000470
3 frontal bossing 32 HP:0002007
4 intellectual disability 32 HP:0001249
5 seizures 32 HP:0001250
6 dysarthria 32 HP:0001260
7 dysphagia 32 HP:0002015
8 sleep disturbance 32 HP:0002360
9 coarse facial features 32 HP:0000280
10 hearing impairment 32 HP:0000365
11 splenomegaly 32 HP:0001744
12 hepatomegaly 32 HP:0002240
13 depressed nasal bridge 32 HP:0005280
14 joint stiffness 32 HP:0001387
15 anteverted nares 32 HP:0000463
16 thick eyebrow 32 HP:0000574
17 coarse hair 32 HP:0002208
18 flexion contracture 32 HP:0001371
19 dysostosis multiplex 32 HP:0000943
20 prominent forehead 32 HP:0011220
21 hyperactivity 32 HP:0000752
22 thick lower lip vermilion 32 HP:0000179
23 recurrent upper respiratory tract infections 32 HP:0002788
24 absent speech 32 HP:0001344
25 wide mouth 32 HP:0000154
26 diarrhea 32 HP:0002014
27 synophrys 32 HP:0000664
28 drooling 32 HP:0002307
29 hirsutism 32 HP:0001007
30 ovoid thoracolumbar vertebrae 32 HP:0003309
31 growth abnormality 32 HP:0001507
32 thickened ribs 32 HP:0000900
33 asymmetric septal hypertrophy 32 HP:0001670
34 heparan sulfate excretion in urine 32 HP:0002159
35 cellular metachromasia 32 HP:0003653

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss

Neurologic Central Nervous System:
seizures
dysarthria
hyperactivity
mental retardation
sleep disturbances common
more
Head And Neck Face:
coarse facial features
prominent forehead

Skin Nails Hair Hair:
coarse hair
synophrys
hirsutism
thick eyebrows

Head And Neck Eyes:
synophrys
decreased vision
clear corneas

Cardiovascular Heart:
asymmetric septal hypertrophy

Skeletal:
joint contractures
mild dysotosis multiplex

Abdomen Spleen:
mild splenomegaly

Respiratory Nasopharynx:
frequent upper respiratory tract infections

Skeletal Limbs:
mild joint stiffness

Head And Neck Neck:
short neck

Abdomen Gastrointestinal:
dysphagia
diarrhea
drooling

Head And Neck Nose:
anteverted nares
flat nasal bridge

Head And Neck Mouth:
wide mouth
drooling
thick lips

Skeletal Spine:
ovoid thoracolumbar vertebrae

Laboratory Abnormalities:
heparan sulfate excretion in urine
metachromasia of white blood cells and fibroblasts
n-acetylglucosamine-6-sulfate sulfatase deficiency

Growth Height:
normal stature

Chest Ribs Sternum Clavicles And Scapulae:
thick ribs

Abdomen Liver:
mild hepatomegaly

Neurologic Behavioral Psychiatric Manifestations:
severe behavioral problems beginning at 3 to 4 years of age

Clinical features from OMIM:

252940

UMLS symptoms related to Mucopolysaccharidosis, Type Iiid:


seizures, joint stiffness, diarrhea

Drugs & Therapeutics for Mucopolysaccharidosis, Type Iiid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Sanfilippo Disease Type A-B-C-D AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298686

Search NIH Clinical Center for Mucopolysaccharidosis, Type Iiid

Genetic Tests for Mucopolysaccharidosis, Type Iiid

Anatomical Context for Mucopolysaccharidosis, Type Iiid

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiid:

41
Brain, Spinal Cord, Bone, Eye

Publications for Mucopolysaccharidosis, Type Iiid

Articles related to Mucopolysaccharidosis, Type Iiid:

(show all 27)
# Title Authors PMID Year
1
A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D. 9 38 8 71
19650410 2009
2
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. 9 38 8 71
17998446 2007
3
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. 9 38 8 71
12573255 2003
4
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. 38 8 71
12624138 2003
5
Sanfilippo syndrome type D. 8 71
3100754 1987
6
Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. 8 71
6450420 1980
7
N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID). 8
1434515 1992
8
Sanfilippo syndrome type D in two adolescent sisters. 8
1908010 1991
9
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. 8
6411475 1983
10
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. 8
6807676 1982
11
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. 9 38
20232353 2010
12
Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID. 38
28334745 2017
13
Diagnosis of caprine mucopolysaccharidosis type IIID by real-time polymerase chain reaction-based genotyping. 38
20622237 2010
14
Metabolic studies of glycosphingolipid accumulation in mucopolysaccharidosis IIID. 38
11243730 2001
15
Caprine mucopolysaccharidosis IIID: a preliminary trial of enzyme replacement therapy. 38
11303788 2000
16
Recombinant caprine 3H-[N-acetylglucosamine-6-sulfatase] and human 3H-[N-acetylgalactosamine-4-sulfatase]: plasma clearance, tissue distribution, and cellular uptake in the rat. 9
10344792 1998
17
Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics. 9
9600207 1998
18
Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase. 38
9355739 1997
19
A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases. 38
1463457 1992
20
Sanfilippo D syndrome: correction of glucosamine-6-sulphatase deficiency following fibroblast culture in Chang's media. 38
1788178 1991
21
Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrate. 38
2500866 1989
22
Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase. 38
3196333 1988
23
Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14. 38
3391615 1988
24
Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses. 38
3931626 1985
25
Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase. 38
6428270 1984
26
Isolation and characterization of N-acetylglucosamine 6-sulfate from the urine of a patient with Sanfilippo type D syndrome and its occurrence in normal urine. 38
6435628 1983
27
N-acetylglucosamine 6-sulfate residues in keratan sulfate and heparan sulfate are desulfated by the same enzyme. 38
6236815 1983

Variations for Mucopolysaccharidosis, Type Iiid

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiid:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNS NM_002076.4(GNS): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs119461974 12:65130819-65130819 12:64737039-64737039
2 GNS NM_002076.4(GNS): c.1169del (p.Gln390fs) deletion Pathogenic rs483352898 12:65122767-65122767 12:64728987-64728987
3 GNS NM_002076.4(GNS): c.1168C> T (p.Gln390Ter) single nucleotide variant Pathogenic rs119461975 12:65122768-65122768 12:64728988-64728988
4 GNS NM_002076.4(GNS): c.1138_1139insGTCCT (p.Asp380fs) insertion Pathogenic rs483352899 12:65122797-65122798 12:64729017-64729018
5 GNS NM_002076.4(GNS): c.1226dup (p.Ser410fs) duplication Pathogenic rs483352900 12:65116868-65116868 12:64723088-64723088
6 GNS NM_002076.4(GNS): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic 12:65134447-65134447 12:64740667-64740667
7 GNS NM_002076.4(GNS): c.682A> G (p.Met228Val) single nucleotide variant Uncertain significance 12:65137031-65137031 12:64743251-64743251
8 GNS NM_002076.4(GNS): c.1309-6C> G single nucleotide variant Uncertain significance 12:65115491-65115491 12:64721711-64721711
9 GNS NM_002076.4(GNS): c.688G> A (p.Ala230Thr) single nucleotide variant Uncertain significance 12:65137025-65137025 12:64743245-64743245
10 MOK NM_014226.3(MOK): c.630_631dup (p.Ile211fs) duplication Uncertain significance 14:102700086-102700087 14:102233749-102233750
11 GNS NM_002076.4(GNS): c.363G> A (p.Lys121=) single nucleotide variant Benign/Likely benign rs2230291 12:65141588-65141588 12:64747808-64747808
12 GNS NM_002076.4(GNS): c.253-10del deletion Benign/Likely benign rs201654719 12:65141708-65141708 12:64747928-64747928
13 GNS NM_002076.4(GNS): c.1598G> A (p.Arg533His) single nucleotide variant Benign rs61743822 12:65110582-65110582 12:64716802-64716802
14 GNS NM_002076.4(GNS): c.198G> A (p.Pro66=) single nucleotide variant Benign rs1147096 12:65146532-65146532 12:64752752-64752752

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis, Type Iiid:

74
# Symbol AA change Variation ID SNP ID
1 GNS p.Ser94Ile VAR_064070
2 GNS p.Lys340Arg VAR_064072
3 GNS p.Gly418Glu VAR_064073

Expression for Mucopolysaccharidosis, Type Iiid

Search GEO for disease gene expression data for Mucopolysaccharidosis, Type Iiid.

Pathways for Mucopolysaccharidosis, Type Iiid

GO Terms for Mucopolysaccharidosis, Type Iiid

Sources for Mucopolysaccharidosis, Type Iiid

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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